All publications herein are incorporated by reference to the same extent as if each individual publication or patent application was specifically and individually indicated to be incorporated by reference. The following description includes information that may be useful in understanding the present invention. It is not an admission that any of the information provided herein is prior art or relevant to the presently claimed invention, or that any publication specifically or implicitly referenced is prior art.
Advances in genetics and medicine has led to the understanding that most diseases have a genetic component. For example, variants in the sequence of DNA in an individual may impact a disease by producing variants in the proteins encoded. These encoded proteins; in turn, may perform biological functions that will become altered by the genetic variants. Furthermore, it has become understood that complex diseases often result from the interactions of several genes or their products, each with varying patterns of mutations. By understanding the underlying genetics of a disease or condition, one may find therapeutic targets or opportunities for diagnostics, variants that act as potential susceptibility or protective markers of a disease, or pathways for further research. Thus, there is an enormous need in the art to identify genes, genetic variants and biological pathways that are associated with a disease or condition.